NM_001032386.2(SUOX):c.842_843del (p.Leu281fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 8, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001267499.2

Allele description [Variation Report for NM_001032386.2(SUOX):c.842_843del (p.Leu281fs)]

NM_001032386.2(SUOX):c.842_843del (p.Leu281fs)

Gene:

SUOX:sulfite oxidase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q13.2

Genomic location:

Preferred name:

NM_001032386.2(SUOX):c.842_843del (p.Leu281fs)

HGVS:

NC_000012.12:g.56004231_56004232del
NG_008136.1:g.11973_11974del
NM_000456.3:c.842_843del
NM_001032386.2:c.842_843delMANE SELECT
NM_001032387.2:c.842_843del
NP_000447.2:p.Leu281fs
NP_001027558.1:p.Leu281fs
NP_001027559.1:p.Leu281fs
NC_000012.11:g.56398015_56398016del
NM_000456.2:c.842_843delTG
p.Leu281fs

Protein change:

L281fs

Links:

dbSNP: rs748900391

NCBI 1000 Genomes Browser:

rs748900391

Molecular consequence:

NM_000456.3:c.842_843del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001032386.2:c.842_843del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001032387.2:c.842_843del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001445680	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Mar 8, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001445680

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Mar 8, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Middle Eastern/Afghani	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase.

Kisker C, Schindelin H, Pacheco A, Wehbi WA, Garrett RM, Rajagopalan KV, Enemark JH, Rees DC.

Cell. 1997 Dec 26;91(7):973-83.

PubMed [citation]

PMID:: 9428520

Details of each submission

From Ambry Genetics, SCV001445680.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Middle Eastern/Afghani	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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